University of Newcastle respiratory disease expert Professor Peter Wark will lead a new $2.1 million project to develop targeted treatments for the rare and life-threatening disease Cystic Fibrosis.
The research project seeks to target individuals who suffer from rare genetic mutations of the disease, and will adopt a precision medicine approach by considering individual genetic variations when tailoring treatments for people with Cystic Fibrosis.
Nationally, Cystic Fibrosis is the most common fatal genetic disorder affecting citizens, and around 3,500 people across the country are living with the disease.
Caused by more than 2,000 gene defects, Cystic Fibrosis primarily damages the lungs and digestive system because of a malfunction in the exocrine system, which is responsible for producing saliva, sweat, tears and mucus.
Although medications have been developed to help patients manage cystic fibrosis, they improve outcomes for only 80 per cent of people with the disease.
“About 80 per cent of people diagnosed with Cystic Fibrosis have the same genetic mutations. For those individuals, there are treatments that improve the function of protein and reverse the abnormalities that cause problems to occur in Cystic Fibrosis – which is great news.”
However, for the remainder of the affected population, Professor Wark said “it’s very hard to do clinical trials with people with rare disorders … so unfortunately, people with the rare disorders and diseases often miss out on treatments.”
Professor Wark said researchers seek to tailor treatment options to individual patients and predict accurately who will and will not benefit from existing Cystic Fibrosis medicines.
“Our precision medicine approach allows us to maximise the benefit [of treatments] while reducing the risk of harms at the same time.”
Currently, the lack of clinical trials involving sufferers with rare mutations means they are either denied treatments completely, or are prescribed the treatments with no guarantee they will be effective, and which also poses a risk to health.
“For some people, treatments won’t have any real benefit and they’ll just be unnecessarily taking medications for a long period of time, which can have potential side effects.”
“What we do with the grant is we take cells from these individuals and trial medications on them to see if this corrects the abnormality that causes Cystic Fibrosis.”
“We can do that in a laboratory without having to give the patients the medication and they won’t get side effects, but more importantly we can tell whether the treatment is going to work for that individual specifically.”
Professor Wark said he hopes the technology will be made available for public use soon.
“We just have to demonstrate if this avatar model will work, then it will really be up to regulatory authorities whether they want to include this sort of process in the selection of medications.”
“We could take this technology from bench to bedside in the next couple of years, and have it as a means of screening effective treatment in these individuals.”
Moving forward, the researcher believes the model will not only improve outcomes for those with rare forms of Cystic Fibrosis, but hopes it will be utilised for different diseases as well.
The $2.1m funding for the project is part of the Medical Research Future Fund, administered by the National Health and Medical Research Council.
Professor Wark’s project is among 27 others that were awarded funding through the Federal Government’s 2021 Rare Cancers, Rare Diseases and Unmet Need grant program, and the researcher said securing the grant was no easy feat.
“The Medical Research Future Fund is very difficult to be able to access and to be able to get it awarded- the success rates are less than 10% at the best of times, so we’re very happy.”
The University of Newcastle-led project will involve collaborators from six additional Australian universities and research institutes, including the University of Sydney and the University of New South Wales.
Maia O’Connor